R70W (p.Arg70Trp) variant of CARD9 (Q9H257)
R70W (p.Arg70Trp) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD103. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- rs767522068
- UniProt VAR 084634
- ExAC rs767522068
- TOPMed rs767522068
- Pathogenic
- in IMD103
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.32
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.1e-05)
- Cited in: Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis… (PMID 25702837)
- Cited in: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency. (PMID 26961233)